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1.
Clin Lab ; 67(9)2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-34542973

RESUMEN

BACKGROUND: Myeloproliferative neoplasms (MPN) are hematopoietic disorders characterized by abnormal proliferation of the myeloid lineage. Three classic subtypes are polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). These disorders are well known for their association with the JAK2 V617F mutation, in addition to mutations in MPL exon 10, and JAK2 exon 12. CALR mutations were detected in approximately 20% to 25% of patients with ET and PMF and not in patients with PV. Most CALR mutations were deletions and insertions in exon 9, which caused frameshift mutations. METHODS: This study included 60 Taiwanese patients with MPN. We identified CALR mutations in patients with MPN using the high-resolution melting (HRM) analysis. Additionally, the HRM analysis was compared with ipsogen CALR RGQ PCR. To confirm the results of HRM and ipsogen CALR RGQ PCR, sequencing analysis was also conducted all the samples. RESULTS: Up to 6.25% of CALR mutations were successfully detected in patients with MPN using HRM analysis. Eight out of 65 patients (12.3%) were positive for the presence of CALR mutation, including p.L367fs*46 and p.K385fs*47. The results proved 100% comparable to those obtained using ipsogen CALR RGQ PCR. CONCLUSIONS: The HRM analysis and ipsogen CALR RGQ PCR are feasible and reliable techniques for the detection of CALR mutation. Furthermore, HRM offers several benefits, for example, it is time-saving, inexpensive, and does not require many personnel.


Asunto(s)
Trastornos Mieloproliferativos , Policitemia Vera , Calreticulina/genética , Humanos , Janus Quinasa 2/genética , Mutación , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/genética , Receptores de Trombopoyetina/genética
2.
Sci Rep ; 7: 42577, 2017 02 17.
Artículo en Inglés | MEDLINE | ID: mdl-28209963

RESUMEN

Whether or not esophagogastric varices (EGV) could determine the outcomes of patients with hepatocellular carcinoma (HCC) is still unclear. A total of 990 treatment-naive HCC patients who received an esophagogastroduodenoscopy at the time of HCC diagnosis were retrospectively enrolled. The factors in terms of prognosis were analyzed by Cox proportional hazards model and propensity score matching analysis. Among the enrolled patients, 480 (48.5%) patients had EGV. Patients with EGV had a significantly lower cumulative 5-year survival rate than those without EGV (24.9% versus 46.4%, p < 0.001). It was confirmed by a multivariate analysis and propensity score matching analysis. Stratified by tumor stage, the patients with EGV had lower survival rates than the patients without EGVs in all Barcelona Clinic Liver Cancer stages except stage D. Moreover, the patients with EGV had lower survival rates than those without EGV, both by curative or non-curative treatment modalities. In conclusion, EGV was an independent risk factor predicting poor prognosis for the patients with HCC by multivariate analysis, propensity score matching analysis, and subgroup analysis.


Asunto(s)
Carcinoma Hepatocelular/complicaciones , Carcinoma Hepatocelular/mortalidad , Várices Esofágicas y Gástricas/etiología , Neoplasias Hepáticas/complicaciones , Neoplasias Hepáticas/mortalidad , Anciano , Biomarcadores , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/terapia , Terapia Combinada , Várices Esofágicas y Gástricas/diagnóstico , Várices Esofágicas y Gástricas/prevención & control , Femenino , Humanos , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/terapia , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , Pronóstico , Modelos de Riesgos Proporcionales , Análisis de Supervivencia
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